E3G (p.Glu3Gly) variant of MUSK (O15146)
E3G (p.Glu3Gly) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E3G (p.Glu3Gly) variant details
- p.Glu3Gly
- gnomAD rs1348994906
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.30
- MetaLR 0.27
- MetaSVM -0.45
- CADD 24.90
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available